Abstract
Purpose :
To report the genotype and clinical features of RHO-associated retinitis pigmentosa (RHO-RP) in Japanese patients.
Methods :
Multiplex polymerase chain reaction-based target sequencing of 83 known causative genes of RP or whole exome sequencing with target analysis of retinal disease-associated genes were performed in 782 patients with RP in Kyushu University Hospital.Pathogenic variants of RHO gene were detected in 19 patients. Clinical information including age, best-corrected visual acuity (BCVA), Goldmann perimetry, fundus photography, and optical coherence tomography were retrospectively obtained from the electronic medical charts. Visual outcomes were compared between classical and sector phenotypes and among variants.
Results :
The mean age at the first visit was 53.9 ± 14.4 years, with the mean follow-up of 7.1 ± 3.6 years. Classical RHO-RP phenotype was associated in 16/19 (84.2%) participants, and p.Pro23Leu and p.Pro347Leu variants were noted in 4 and 2 patients, respectively. Three patients with sector RHO-RP harbored p.Ala164Val (n=2) and p.Asn78Ile (n=1) variants. In classical RHO-RP, mean BCVA decreased from 0.60 to 1.10 logarithm of the minimum angle of resolution (logMAR) over the follow-up period; whereas, in sector RHO-RP, BCVA was relatively preserved as 0.05 and 0.09 logMAR respectively at the first and last visit. Among p.Pro23Leu, p.Pro347Leu and p.Ala164Val variants, patients with p.Pro347Leu variant exhibited early onset and severe vision loss in earlier ages.Macular complications such as epiretinal membrane and cystoid macular edema was observed in 5 classical RHO-RP and 1 sector RHO-RP patients.
Conclusions :
p.Pro23Leu, but not p.Pro23His, was the frequent variant causing RHO-RP in Japanese patients. As reported in previous Europe and US studies, patients with p.Pro347Leu variant showed more severe phenotype, and variants causing sector RHO-RP were associated with a good prognosis.
This is a 2021 ARVO Annual Meeting abstract.